What is Marfan Syndrome? - Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.
Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree.
Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
Inheritance pattern: Marfan Syndrome is usually inherited from one parent who has the disorder. The chance of a child getting Marfan Syndrome when one of the parents has it is 50%. The chance of the child inheriting the disorder when both parents have it is 75%. Marfan Syndrome is caused by mutations in the FBN1 gene on chromosome 15.
Symptoms:
People with Marfan syndrome are typically very tall, slender, and loose jointed. Arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine, and flat feet. More than half of all people with symptoms of Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal or may be be shifted off to one side.
Treatment: There is no cure for Marfan syndrome, but with regular treatment and carefull management of the disorder, patients can enjoy a normal life span. Some of the treatments include:
For skeletal abnormalities:
-Orthopedic brace
-Surgery
For eye abnormalities and myopia:
-Eyeglasses, Contact lenses, Eye surgery
For heart abnormalities:
-Beta-blockers
-Heart surgery
*Avoid smoking
*Genetic counseling
. Frequency:
In the United States, Marfan syndrome affects about 1 in 10,000 to 20,000 people.
Discussion Questions:
1.Do people with Marfan sydrome live long?
2.How frequent is Marfan syndrome?
3.If someone is very tall and skinny,does that automatically mean that they have Marfan syndrome?
Liana Gundy, a two year old suffering from Marfan syndrome. As you can see in the picture, she's twice the size as kids her age.
Mathew Rudes. Doctors told his parents he would die shortly after birth. He's now 21 years old.
*MARFAN SYNDROME*
What is Marfan Syndrome?
- Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50 percent chance of passing along the disorder to each of their children.
Marfan syndrome is also referred to as a “variable expression” genetic disorder, because not everyone with Marfan syndrome has the same symptoms to the same degree.
Marfan syndrome is present at birth. However, it may not be diagnosed until adolescence or young adulthood.
Inheritance pattern:
Marfan Syndrome is usually inherited from one parent who has the disorder. The chance of a child getting Marfan Syndrome when one of the parents has it is 50%. The chance of the child inheriting the disorder when both parents have it is 75%. Marfan Syndrome is caused by mutations in the FBN1 gene on chromosome 15.
Symptoms:
People with Marfan syndrome are typically very tall, slender, and loose jointed. Arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body because Marfan syndrome affects the long bones of the skeleton. A person with Marfan syndrome usually has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine, and flat feet. More than half of all people with symptoms of Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal or may be be shifted off to one side.
Treatment:
There is no cure for Marfan syndrome, but with regular treatment and carefull management of the disorder, patients can enjoy a normal life span. Some of the treatments include:
For skeletal abnormalities:
-Orthopedic brace
-Surgery
For eye abnormalities and myopia:
-Eyeglasses, Contact lenses, Eye surgery
For heart abnormalities:
-Beta-blockers
-Heart surgery
*Avoid smoking
*Genetic counseling
.
Frequency:
In the United States, Marfan syndrome affects about 1 in 10,000 to 20,000 people.
Discussion Questions:
1.Do people with Marfan sydrome live long?
2.How frequent is Marfan syndrome?
3.If someone is very tall and skinny,does that automatically mean that they have Marfan syndrome?
Works sited:
Schoenstadt, Arthur. Symptoms of Marfan syndrome. September 03, 2008. http://genetics.emedtv.com/marfan-syndrome/symptoms-of-marfan-syndrome.html
Marfan syndrome. January 10, 2010. Cleveland Clinic. http://my.clevelandclinic.org/heart/disorders/aorta_marfan/marfan.aspx